Article
Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.
Biochemical and biophysical research communications - 18 Aug 2006
Sun Yan-Hong, Wei Qi-Ping, Zhou Xiangtian, Qian Yaping, Zhou Jian, Lu Fan, Qu Jia, Guan Min-Xin
Abstract excerpt
We report here the clinical, genetic, and molecular characterization of three Chinese families with maternally transmitted Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either...
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